Hirschsprung disease

BACKGROUND: Anorectal malformation (ARM) or Hirschsprung's disease (HD) in children impact on parents' burden of care and quality of life (QoL). The aim of this study was to investigate the relationship between caregiver burden and QoL in parents of children with ARM or HD. DESIGN AND METHODS: This cross-sectional study was conducted with 51 parents who completed the Zarit Burden Inventory (ZBI) and World Health Organization Quality of Life Scale-Short Form Turkish Version (WHOQOL-BREF-TR)...

Objective: To compare the clinical outcomes between total transanal endorectal pull-through (TTEPT) and laparoscopic-assisted transanal endorectal pull-through (LTEPT) in children with rectosigmoid Hirschsprung's disease. Methods: A retrospective study was conducted to compare patients with rectosigmoid Hirschsprung's disease who underwent TTEPT or LTEPT at Beijing Children's Hospital between January 2016 and June 2021. Clinical details were collected from medical records. Patients' parents completed the Krickenbeck questionnaire to evaluate the long-term bowel function (age >4 years) by telephone...

Hirschsprung's disease is a dysmotility disease caused by lack of ganglion cells in the bowel wall that can affect varying lengths of the intestine. In extreme circumstances, there can be little remaining ganglionated bowel, and the patient becomes dependent on parental nutrition (PN) for survival. Intestinal transplant has been utilized to salvage these patients suffering terminal complications of PN. The question as to whether to reestablish intestinal continuity, and thus not require a stoma is vexed. However, data and experience would suggest this can be safely done with good functional results...

BACKGROUND: Hirschsprung's disease is a rare congenital anomaly of the colon with absence of the ganglionic nerve cells. The treatment of the anomaly is surgical. METHODS: This population-based data-linkage cohort study was part of the EUROlinkCAT project and investigated mortality and morbidity for the first 5 years of life for European children diagnosed with Hirschsprung's disease. Nine population-based registries in five countries from the European surveillance of congenital anomalies network (EUROCAT) participated...

BACKGROUND: Even if understanding of neuronal enteropathies, such as Hirschsprung's disease and functional constipation, has been improved, specialized therapies are still missing. Sacral neuromodulation (SNM) has been established in the treatment of defecation disorders in adults. The aim of the study was to investigate effects of SNM in children and adolescents with refractory symptoms of chronic constipation. METHODS: A two-centered, prospective trial has been conducted between 2019 and 2022...

BACKGROUND: To comprehensively compare the effects of open Duhamel (OD), laparoscopic-assisted Duhamel (LD), transanal endorectal pull-through (TEPT), and laparoscopic-assisted endorectal pull-through (LEPT) in Hirschsprung disease. METHODS: PubMed, Embase, Cochrane Library, Web of Science, CNKI, WanFang, and VIP were comprehensively searched up to August 4, 2022. The outcomes were operation-related indicators and complication-related indicators. The Grading of Recommendations Assessment, Development and Evaluation (GRADE) approach was used to evaluate the quality of evidence...

PURPOSE: Patients with anorectal malformation (ARM) and Hirschsprung's disease (HD) live with long-term impact of these diseases even into adulthood. We aimed to explore the physical, social and emotional impact of these diseases in adolescents and young adults to develop best practices for transition care. METHODS: We conducted one-on-one in-depth interviews with ARM and HD patients aged  ≥ 11 years who had undergone surgery at four tertiary referral centers...

Hirschsprung disease is an uncommon medical condition caused by the lack of migration of ganglion cells to the rectum during embryonic development, affecting the peristaltic movements of the intestine. It is a chronic medical condition responsible for chronic constipation and intestinal obstruction. We present the case of a 10-year-old female with a history of Hirschsprung disease and colectomy admitted to a pediatric hospital for the management of multiple colonic ulcers and severe anemia who subsequently developed a rectovaginal fistula...

OBJECTIVES: Abnormal motility of the residual colon has been reported in post-pull-through Hirschsprung disease (PT-HSCR) patients with persistent defecation problems. We reviewed the role of colonic manometry (CM) in the management of defecation disorders in these patients. METHODS: We retrospectively reviewed the medical record of PT-HSCR children who underwent CM for persistent symptoms of abnormal defecation. We reviewed their clinical course and its relation to CM findings...

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Internal anal sphincter achalasia (IASA) is a rare anorectal disorder that presents as chronic refractory constipation in pediatrics. With a poor response to conventional constipation-based therapy, it is often misdiagnosed as other conditions, such as ultra-short-segment Hirschsprung disease. This case report describes a rare case of IASA in an adolescent female, emphasizing the importance of ruling out other differentials, including Hirschsprung disease, via rectal biopsy and thus allowing for earlier targeted therapy to improve lifestyle conditions...

BACKGROUND: Hirschsprung Disease (HD) is a rare cause of functional bowel obstruction in children. Patients are typically diagnosed in the neonatal period and undergo pull-through (PT) soon after diagnosis. The optimal management and post-operative outcomes of children who present in a delayed fashion are unknown. METHODS: A multi-center retrospective review of children with HD was performed at participating Pediatric Colorectal and Pelvic Learning Consortium sites...

Neurocristopathies (NCPs) encompass a spectrum of disorders arising from issues during the formation and migration of neural crest cells (NCCs). NCCs undergo epithelial-mesenchymal transition (EMT) and upon key developmental gene deregulation, fetuses and neonates are prone to exhibit diverse manifestations depending on the affected area. These conditions are generally rare and often have a genetic basis, with many following Mendelian inheritance patterns, thus making them perfect candidates for precision medicine...

INTRODUCTION: Hirschsprung disease (HD) manifests as a developmental anomaly affecting the enteric nervous system, where there is an absence of ganglion cells in the lower part of the intestine. This deficiency leads to functional blockages within the intestines. HD is usually confirmed or ruled out through rectal biopsy. The identification of any ganglion cells through hematoxylin and eosin (H&E) staining rules out HD. If ganglion cells are absent, further staining with acetylcholine-esterase (AChE) histochemistry or calretinin immunohistochemistry (IHC) forms part of the standard procedure for determining a diagnosis of HD...

BACKGROUND: Hirschsprung disease (HSCR) is a congenital intestinal disease characterised by functional obstruction of the colon. Herein, we investigated the role and mechanism of the gene GFRA4 in HSCR. METHODS: GFRA4 expression in the ganglionic and aganglionic segment tissues in patients with HSCR and healthy colon tissues were detected using qRT-PCR, western blot, and immunohistochemistry. Cell proliferation, cycle distribution, apoptosis, changes in mitochondrial membrane potential, and differentiation were assessed in mouse enteric neural crest stem cells (ENCSCs) using the CCK-8 assay, EdU staining, flow cytometry, JC-1 probe, and immunofluorescence, respectively...

BACKGROUND: N6-methyladenosine (m6A) is the most abundant mRNA modification in mammals, participating in various biological processes. VIRMA is a key methyltransferase involved in m6A modification. However, the role of VIRMA in Hirschsprung's disease (HSCR) remains unclear. This study aims to investigate the function of VIRMA in HSCR and identify its corresponding regulatory mechanisms. METHODS: The expression of VIRMA and GSK3β in colon tissues of HSCR was examined using RT-qPCR, Western blot, and Immunohistochemistry...

Hair follicle stem cells (HFSCs) are adult stem cells located in the outer root sheath of the follicle bulge with high neural plasticity, which promise a potential for the stem cell therapy for neurological diseases. Hirschsprung's disease (HD) is characterized by the absence of ganglia in the distant bowel. In this study, we elucidated the capacity of HFSCs to differentiate into neuronal cells in the aganglionic colon from embryonic rat. HFSCs were isolated from adult Sprague-Dawley (SD) rats and formed spheres that could be passaged...

BACKGROUND: The long term effects of Hirschsprung disease are clinically variable. Improved understanding of challenges patients may face as adults can help inform transitional care management. OBJECTIVE: To explore the outcomes and transitional care experiences in adult patients with Hirschsprung. DESIGN: Cohort study. SETTING: Single center. PATIENTS: All patients treated for Hirschsprung 1977-2001 (aged >18 at time of survey July 2018-2019)...

PURPOSE: Children with anorectal malformation (ARM) and Hirschsprung's disease (HD) often experience bowel symptoms into adulthood, despite definitive surgery. This study evaluates the quality of life (QOL) and bowel functional outcome of children treated for ARM and HD in comparison to healthy controls. METHODS: Between December 2020 and February 2023, we recruited patients with ARM and HD aged 3-17 years at four tertiary referral centres, who had primary corrective surgery done >12 months prior...

During enteric nervous system (ENS) development, pioneering wavefront enteric neural crest cells (ENCCs) initiate gut colonization. However, the molecular mechanisms guiding their specification and niche interaction are not fully understood. We used single-cell RNA sequencing and spatial transcriptomics to map the spatiotemporal dynamics and molecular landscape of wavefront ENCCs in mouse embryos. Our analysis shows a progressive decline in wavefront ENCC potency during migration and identifies transcription factors governing their specification and differentiation...